F60L (p.Phe60Leu) variant of H6PD (O95479)
F60L (p.Phe60Leu) in H6PD (O95479) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
F60L (p.Phe60Leu) variant details
- p.Phe60Leu
- rs753622383
- gnomAD 1-9245110-GT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.64
- CADD 22.60
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available